rs747506979, GBA

N. diseases: 4
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Gaucher Disease, Type 1
CUI: C1961835
Disease: Gaucher Disease, Type 1
0.800 GeneticVariation UNIPROT ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 19888064 2009
Gaucher Disease, Type 1
CUI: C1961835
Disease: Gaucher Disease, Type 1
0.800 GeneticVariation UNIPROT Carrier screening in individuals of Ashkenazi Jewish descent. 18197057 2008
Gaucher Disease, Type 1
CUI: C1961835
Disease: Gaucher Disease, Type 1
0.800 GeneticVariation CLINVAR
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.700 GeneticVariation CLINVAR
Hepatosplenomegaly
CUI: C0019214
Disease: Hepatosplenomegaly
0.700 GeneticVariation CLINVAR
Anemia
CUI: C0002871
Disease: Anemia
0.700 GeneticVariation CLINVAR